ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.2690A>G (p.Gln897Arg)

gnomAD frequency: 0.00003  dbSNP: rs751793566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547674 SCV000645133 uncertain significance Cataract 18 2016-12-08 criteria provided, single submitter clinical testing In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is present in population databases (rs751793566, ExAC 0.003%) but has not been reported in the literature in individuals with a FYCO1-related disease. This sequence change replaces glutamine with arginine at codon 897 of the FYCO1 protein (p.Gln897Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine.
Ambry Genetics RCV004619327 SCV005118011 uncertain significance Inborn genetic diseases 2024-04-01 criteria provided, single submitter clinical testing The c.2690A>G (p.Q897R) alteration is located in exon 8 (coding exon 7) of the FYCO1 gene. This alteration results from a A to G substitution at nucleotide position 2690, causing the glutamine (Q) at amino acid position 897 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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